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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:congenital nervous system abnormality
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Accession:DOID:2490 term browser browse the term
Synonyms:exact_synonym: congenital neurologic anomaly
 xref: ICD9CM:742
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
congenital nervous system abnormality term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eml1 EMAP like 1 ISS MouseDO NCBI chr 6:127,283,968...127,457,246
Ensembl chr 6:127,284,029...127,457,246 		JBrowse link
G Tuba1a tubulin, alpha 1A ISS MouseDO NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186 		JBrowse link
3p deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd28 ankyrin repeat domain 28 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,918,487...7,050,244
Ensembl chr16:6,914,336...7,050,249 		JBrowse link
G Btd biotinidase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945 		JBrowse link
G C4h3orf20 similar to human chromosome 3 open reading frame 20 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,422,033...124,470,657
Ensembl chr 4:124,432,193...124,469,254 		JBrowse link
G Capn7 calpain 7 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,545,630...6,581,908
Ensembl chr16:6,545,731...6,581,905 		JBrowse link
G Ccdc174 coiled-coil domain containing 174 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,392,183...124,419,035
Ensembl chr 4:124,392,274...124,419,035 		JBrowse link
G Chchd4 coiled-coil-helix-coiled-coil-helix domain containing 4 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:123,968,264...123,977,398
Ensembl chr 4:123,968,265...123,977,414
Ensembl chr 1:123,968,265...123,977,414 		JBrowse link
G Colq collagen like tail subunit of asymmetric acetylcholinesterase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,731,850...6,824,973
Ensembl chr16:6,731,858...6,787,107 		JBrowse link
G Dazl deleted in azoospermia-like ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:10,695,593...10,712,330
Ensembl chr 9:10,695,592...10,712,323 		JBrowse link
G Dph3 diphthamide biosynthesis 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:7,288,295...7,293,734
Ensembl chr16:7,282,705...7,291,265 		JBrowse link
G Eaf1 ELL associated factor 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,698,322...6,713,071
Ensembl chr16:6,698,322...6,713,071 		JBrowse link
G Efhb EF hand domain family, member B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:6,372,191...6,441,678
Ensembl chr 9:6,372,194...6,441,919 		JBrowse link
G Fbln2 fibulin 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:123,704,289...123,763,857
Ensembl chr 4:123,704,373...123,763,948 		JBrowse link
G Fgd5 FYVE, RhoGEF and PH domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,497,061...124,594,564
Ensembl chr 4:124,497,068...124,594,563 		JBrowse link
G Galnt15 polypeptide N-acetylgalactosaminyltransferase 15 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:7,227,232...7,267,002
Ensembl chr16:7,227,271...7,267,014 		JBrowse link
G Grip2 glutamate receptor interacting protein 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,271,456...124,356,538
Ensembl chr 4:124,271,456...124,321,268 		JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,826,881...6,863,027
Ensembl chr16:6,824,906...6,863,027 		JBrowse link
G Hdac11 histone deacetylase 11 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:123,645,873...123,667,407
Ensembl chr 4:123,650,157...123,667,405 		JBrowse link
G Kat2b lysine acetyltransferase 2B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:6,562,525...6,667,064
Ensembl chr 9:6,562,288...6,667,064 		JBrowse link
G Kcnh8 potassium voltage-gated channel subfamily H member 8 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:5,506,044...5,945,828
Ensembl chr 9:5,506,044...5,945,828 		JBrowse link
G Lsm3 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,021,023...124,027,269
Ensembl chr 4:124,021,023...124,027,269 		JBrowse link
G Mettl6 methyltransferase 6, tRNA N3-cytidine ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,683,820...6,699,013
Ensembl chr16:6,583,465...6,698,975 		JBrowse link
G Mrps25 mitochondrial ribosomal protein S25 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,668,320...124,680,086
Ensembl chr 4:124,668,094...124,680,057 		JBrowse link
G Nr2c2 nuclear receptor subfamily 2, group C, member 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,610,216...124,666,813
Ensembl chr 4:124,608,960...124,661,902 		JBrowse link
G Nup210 nucleoporin 210 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:123,511,558...123,609,874
Ensembl chr 4:123,511,559...123,609,874 		JBrowse link
G Oxnad1 oxidoreductase NAD-binding domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:7,293,470...7,322,540
Ensembl chr16:7,293,470...7,322,540 		JBrowse link
G Plcl2 phospholipase C-like 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:3,292,564...3,477,009
Ensembl chr 9:3,292,695...3,477,009 		JBrowse link
G Pp2d1 protein phosphatase 2C-like domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:6,512,282...6,533,653
Ensembl chr 9:6,512,657...6,533,639 		JBrowse link
G Rab5a RAB5A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:6,483,906...6,512,877
Ensembl chr 9:6,484,469...6,512,873 		JBrowse link
G Rbsn rabenosyn, RAB effector ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,682,228...124,712,578
Ensembl chr 4:124,683,969...124,712,578 		JBrowse link
G Rftn1 raftlin lipid raft linker 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:10,804,611...11,002,084
Ensembl chr 9:10,804,611...11,002,084 		JBrowse link
G Satb1 SATB homeobox 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894 		JBrowse link
G Sh3bp5 SH3-domain binding protein 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,583,462...6,678,344
Ensembl chr16:6,583,465...6,698,975 		JBrowse link
G Slc6a6 solute carrier family 6 member 6 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,195,186...124,268,880
Ensembl chr 4:124,195,218...124,268,875 		JBrowse link
G Tbc1d5 TBC1 domain family, member 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:3,503,328...4,017,131
Ensembl chr 9:3,513,623...4,016,913 		JBrowse link
G Thumpd3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr 4:146,185,422...146,209,802
Ensembl chr 4:146,185,503...146,211,246 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825 		JBrowse link
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:123,863,108...123,908,981
Ensembl chr 4:123,863,108...123,908,981 		JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010 		JBrowse link
agnathia-otocephaly complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxh1 forkhead box H1 ISS OMIM:202650 MouseDO NCBI chr 7:108,387,969...108,391,566
Ensembl chr 7:108,387,969...108,390,049 		JBrowse link
G Prrx1 paired related homeobox 1 ISO ClinVar Annotator: match by term: Agnathia-otocephaly complex
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12244557 PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 More... NCBI chr13:75,600,777...75,671,896
Ensembl chr13:75,601,706...75,670,866 		JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISS OMIM:202650 MouseDO NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074 		JBrowse link
Al-Raqad Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcps decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Al-Raqad syndrome OMIM
ClinVar		 PMID:25701870 PMID:25712129 PMID:25741868 PMID:28492532 PMID:30289615 More... NCBI chr 8:33,468,669...33,524,407
Ensembl chr 8:33,415,671...33,524,389 		JBrowse link
Amish Lethal Microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a19 solute carrier family 25 member 19 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amish lethal microcephaly | ClinVar Annotator: match by term: Microcephaly, Amish type | ClinVar Annotator: match by term: THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE)		 OMIM
CTD
ClinVar		 PMID:12185364 PMID:18414213 PMID:19798730 PMID:25741868 PMID:26467025 More... NCBI chr10:100,853,554...100,867,517
Ensembl chr10:100,847,168...100,867,447 		JBrowse link
anencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx1 ALX homeobox 1 ISO RGD PMID:8673125 RGD:734689 NCBI chr 7:38,157,626...38,177,220
Ensembl chr 7:38,147,117...38,177,220 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Anencephaly ClinVar PMID:16199547 PMID:19466712 PMID:19777577 PMID:25741868 PMID:26092869 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949 		JBrowse link
G Cecr2 CECR2, histone acetyl-lysine reader ISS OMIM:206500 MouseDO NCBI chr 4:153,890,310...153,998,078
Ensembl chr 4:153,890,206...153,993,451 		JBrowse link
G Efna5 ephrin A5 ISS OMIM:206500 MouseDO NCBI chr 9:102,316,753...102,595,480
Ensembl chr 9:102,320,295...102,597,413 		JBrowse link
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Anencephalus | ClinVar Annotator: match by term: Anencephaly ClinVar PMID:25741868 PMID:27055666 PMID:31680349 NCBI chr 8:33,912,692...33,921,760
Ensembl chr 8:33,912,692...33,921,760 		JBrowse link
G Lmo4 LIM domain only 4 ISS OMIM:206500 MouseDO NCBI chr 2:233,264,180...233,280,881
Ensembl chr 2:233,264,182...233,280,880 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:point mutation:intron:c.-26+755C>A (rs326119) (human) RGD PMID:26045171 RGD:11098877 NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425 		JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Anencephalus | ClinVar Annotator: match by term: Anencephaly ClinVar PMID:25741868 PMID:27055666 PMID:31680349 NCBI chr 8:33,910,461...33,918,716
Ensembl chr 8:33,911,357...33,918,714 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO associated with Meckel Syndrome, Type 5;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083 		JBrowse link
G Trim36 tripartite motif-containing 36 ISO ClinVar Annotator: match by term: Anencephaly
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:28087737 NCBI chr18:38,859,604...38,912,859
Ensembl chr18:38,861,018...38,912,859 		JBrowse link
Anencephaly 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trim36 tripartite motif-containing 36 ISO ClinVar Annotator: match by term: Anencephaly 1 OMIM
ClinVar		 PMID:25741868 NCBI chr18:38,859,604...38,912,859
Ensembl chr18:38,861,018...38,912,859 		JBrowse link
Anencephaly 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nuak2 NUAK family kinase 2 ISO ClinVar Annotator: match by term: Anencephaly 2 OMIM
ClinVar		 PMID:25741868 NCBI chr13:43,753,454...43,770,604
Ensembl chr13:43,753,832...43,770,604 		JBrowse link
Arboleda-Tham syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | ClinVar Annotator: match by term: KAT6A syndrome | ClinVar Annotator: match by term: KAT6A-related condition | ClinVar Annotator: match by term: KAT6A-related neurodevelopmental disorder with multiple anomalies OMIM
ClinVar		 PMID:17374998 PMID:23431171 PMID:25728775 PMID:25728777 PMID:25741868 More... NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606 		JBrowse link
Asparagine Synthetase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asns asparagine synthetase (glutamine-hydrolyzing) ISO ClinVar Annotator: match by term: ASNS DEFICIENCY | ClinVar Annotator: match by term: ASNS-related condition | ClinVar Annotator: match by term: Asparagine synthetase deficiency OMIM
ClinVar		 PMID:16199547 PMID:24139043 PMID:25227173 PMID:25663424 PMID:25741868 More... NCBI chr 4:35,784,995...35,803,474
Ensembl chr 4:35,785,237...35,803,423 		JBrowse link
autosomal recessive intellectual developmental disorder 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cradd CASP2 and RIPK1 domain containing adaptor with death domain ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY OMIM
ClinVar		 PMID:22279524 PMID:25741868 PMID:27773430 PMID:30914828 NCBI chr 7:29,940,240...29,952,907
Ensembl chr 7:29,798,586...29,952,907 		JBrowse link
autosomal recessive intellectual developmental disorder 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pidd1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly | ClinVar Annotator: match by term: PIDD1-related disorder OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28397838 PMID:28492532 PMID:29302074 More... NCBI chr 1:196,536,815...196,542,808
Ensembl chr 1:196,536,834...196,542,699 		JBrowse link
Baraitser-Winter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome | ClinVar Annotator: match by term: Cerebrofrontofacial syndrome ClinVar PMID:1415343 PMID:9714430 PMID:10327243 PMID:12325076 PMID:16685646 More... NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877 		JBrowse link
G Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome ClinVar PMID:31231230 PMID:32028042 NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232
Ensembl chr 3:105,619,737...105,624,232 		JBrowse link
Baraitser-Winter syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO ClinVar Annotator: match by term: ACTB-related BAFopathy | ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 | ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation OMIM
ClinVar		 PMID:1415343 PMID:3445035 PMID:9536098 PMID:9714430 PMID:10327243 More... NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877 		JBrowse link
G Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME ClinVar PMID:31231230 PMID:32028042 NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232
Ensembl chr 3:105,619,737...105,624,232 		JBrowse link
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr12:12,093,834...12,109,043
Ensembl chr12:12,093,834...12,108,511 		JBrowse link
G Fbxl18 F-box and leucine-rich repeat protein 18 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr12:11,674,538...11,701,317
Ensembl chr12:11,676,115...11,699,181 		JBrowse link
G Fscn1 fascin actin-bundling protein 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr12:11,597,042...11,610,183
Ensembl chr12:11,597,048...11,610,211 		JBrowse link
G Mmd2 monocyte to macrophage differentiation-associated 2 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr12:11,962,733...12,009,776
Ensembl chr12:11,962,757...12,009,773 		JBrowse link
G Papolb poly(A) polymerase beta ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr12:12,044,275...12,046,621
Ensembl chr12:12,044,480...12,046,656 		JBrowse link
G Radil Rap associating with DIL domain ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr12:12,024,395...12,088,540
Ensembl chr12:12,024,395...12,088,540 		JBrowse link
G Rbak RB-associated KRAB zinc finger ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr12:11,375,314...11,388,937
Ensembl chr12:11,375,318...11,388,934 		JBrowse link
G Rnf216 ring finger protein 216 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr12:11,454,752...11,576,305
Ensembl chr12:11,454,797...11,576,304 		JBrowse link
G Slc29a4 solute carrier family 29 member 4 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr12:11,853,540...11,884,660
Ensembl chr12:11,853,540...11,874,834 		JBrowse link
G Tnrc18 trinucleotide repeat containing 18 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr12:11,755,394...11,851,717
Ensembl chr12:11,755,392...11,851,384 		JBrowse link
G Wipi2 WD repeat domain, phosphoinositide interacting 2 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr12:11,911,369...11,939,799
Ensembl chr12:11,911,337...11,939,794 		JBrowse link
Baraitser-Winter syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 OMIM
ClinVar		 PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:16773128 More... NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232
Ensembl chr 3:105,619,737...105,624,232 		JBrowse link
Baralle-Macken Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copb1 COPI coat complex subunit beta 1 ISO ClinVar Annotator: match by term: Baralle-Macken syndrome OMIM
ClinVar		 PMID:25741868 PMID:33632302 NCBI chr 1:168,404,334...168,438,589
Ensembl chr 1:168,404,335...168,438,416 		JBrowse link
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome OMIM
ClinVar		 PMID:25488817 PMID:25527630 PMID:25741868 PMID:25792360 PMID:28170084 More... NCBI chr 1:95,359,961...95,375,827
Ensembl chr 1:95,360,284...95,375,877 		JBrowse link
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome ClinVar PMID:15241795 PMID:16571647 PMID:16905551 PMID:17701892 PMID:18435798 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Thoc6 THO complex subunit 6 ISO ClinVar Annotator: match by term: THOC6-related condition | ClinVar Annotator: match by term: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:23621916 PMID:25741868 PMID:26739162 More... NCBI chr10:12,700,051...12,705,411
Ensembl chr10:12,700,051...12,706,925 		JBrowse link
Bloom syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aagab alpha- and gamma-adaptin binding protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:64,083,343...64,121,903
Ensembl chr 8:64,083,380...64,121,900 		JBrowse link
G Abhd17c abhydrolase domain containing 17C, depalmitoylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:138,084,632...138,125,595
Ensembl chr 1:138,084,634...138,125,595 		JBrowse link
G Abhd2 abhydrolase domain containing 2, acylglycerol lipase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,217,403...133,298,564
Ensembl chr 1:133,217,375...133,299,061 		JBrowse link
G Acan aggrecan ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627 		JBrowse link
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:54,991,294...55,047,276
Ensembl chr 8:54,991,296...55,047,391 		JBrowse link
G Actc1 actin, alpha, cardiac muscle 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523 		JBrowse link
G Adal adenosine deaminase-like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,101,857...108,119,557
Ensembl chr 3:108,101,857...108,118,516
Ensembl chr 3:108,101,857...108,118,516 		JBrowse link
G Adam10 ADAM metallopeptidase domain 10 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889 		JBrowse link
G Adamts7 ADAM metallopeptidase with thrombospondin type 1 motif, 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:90,704,727...90,744,333
Ensembl chr 8:90,704,727...90,744,328 		JBrowse link
G Adamtsl3 ADAMTS-like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:136,288,793...136,596,986
Ensembl chr 1:136,288,793...136,596,986 		JBrowse link
G Adpgk ADP-dependent glucokinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:59,699,400...59,727,352
Ensembl chr 8:59,699,388...59,727,351 		JBrowse link
G Aen apoptosis enhancing nuclease ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:132,815,094...132,824,522
Ensembl chr 1:132,815,142...132,824,523 		JBrowse link
G Afg2b AFG2 AAA ATPase homolog B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,694,739...109,708,356
Ensembl chr 3:109,694,757...109,707,757 		JBrowse link
G Agbl1 AGBL carboxypeptidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,043,914...130,950,739
Ensembl chr 1:130,043,970...130,951,638 		JBrowse link
G Akap13 A-kinase anchoring protein 13 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,313,183...129,619,647
Ensembl chr 1:129,314,402...129,619,646 		JBrowse link
G Aldh1a2 aldehyde dehydrogenase 1 family, member A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:71,877,850...71,957,107
Ensembl chr 8:71,877,850...71,957,107 		JBrowse link
G Alpk3 alpha-kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,014,455...135,062,294
Ensembl chr 1:135,014,499...135,062,302 		JBrowse link
G Ankdd1a ankyrin repeat and death domain containing 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:66,017,571...66,043,738
Ensembl chr 8:66,017,773...66,042,651 		JBrowse link
G Ankrd34c ankyrin repeat domain 34C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:90,271,264...90,281,759
Ensembl chr 8:90,269,315...90,281,775 		JBrowse link
G Ankrd63 ankyrin repeat domain 63 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,675,148...105,679,970
Ensembl chr 3:105,663,638...105,682,404 		JBrowse link
G Anp32a acidic nuclear phosphoprotein 32 family member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:62,829,099...62,865,443
Ensembl chr 8:62,827,456...62,865,443 		JBrowse link
G Anpep alanyl aminopeptidase, membrane ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,767,332...133,810,137
Ensembl chr 1:133,767,332...133,785,789 		JBrowse link
G Anxa2 annexin A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658 		JBrowse link
G Ap3b2 adaptor related protein complex 3 subunit beta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,412,580...135,445,191
Ensembl chr 1:135,412,580...135,445,191 		JBrowse link
G Ap3s2 adaptor related protein complex 3 subunit sigma 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,818,825...133,859,269
Ensembl chr 1:133,818,825...133,859,322 		JBrowse link
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:114,272,997...114,339,484
Ensembl chr 3:114,272,956...114,336,752 		JBrowse link
G Aph1b aph-1 homolog B, gamma secretase subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:67,429,198...67,454,735
Ensembl chr 8:67,429,198...67,450,243 		JBrowse link
G Aqp9 aquaporin 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:71,797,231...71,837,485
Ensembl chr 8:71,797,234...71,837,395 		JBrowse link
G Aqr aquarius intron-binding spliceosomal factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:100,874,987...100,945,026
Ensembl chr 3:100,874,987...100,945,044 		JBrowse link
G Arid3b AT-rich interaction domain 3B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,193,268...58,240,901
Ensembl chr 8:58,193,418...58,238,318 		JBrowse link
G Arih1 ariadne RBR E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:59,777,378...59,879,762
Ensembl chr 8:59,777,379...59,880,245 		JBrowse link
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:138,236,235...138,392,868
Ensembl chr 1:138,189,940...138,393,153 		JBrowse link
G Arpin actin-related protein 2/3 complex inhibitor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,864,288...133,873,124
Ensembl chr 1:133,864,265...133,873,124 		JBrowse link
G Arpp19 cAMP-regulated phosphoprotein 19 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:75,779,640...75,802,474
Ensembl chr 8:75,779,523...75,802,452
Ensembl chr 8:75,779,523...75,802,452 		JBrowse link
G Atosa atos homolog A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:75,694,828...75,772,565
Ensembl chr 8:75,695,022...75,772,549 		JBrowse link
G Atp8b4 ATPase phospholipid transporting 8B4 (putative) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:113,554,979...113,757,635
Ensembl chr 3:113,556,192...113,757,225 		JBrowse link
G Aven apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:99,299,009...99,431,635
Ensembl chr 3:99,298,930...99,431,634 		JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Bahd1 bromo adjacent homology domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,891,207...105,914,414
Ensembl chr 3:105,892,478...105,914,410 		JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607 		JBrowse link
G Bcl2a1 BCL2-related protein A1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:89,716,914...89,724,998
Ensembl chr 8:89,716,914...89,724,998 		JBrowse link
G Bcl2l10 Bcl2-like 10 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:76,107,326...76,113,373
Ensembl chr 8:76,107,326...76,113,367 		JBrowse link
G Blm BLM RecQ like helicase ISO
ISS		 ClinVar Annotator: match by term: Bloom syndrome | ClinVar Annotator: match by term: Bloom-Torre-Machacek syndrome
OMIM:210900
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:2678854 PMID:7585968 PMID:7799980 PMID:9285778 PMID:9388480 More... RGD:1580056, RGD:1599420 NCBI chr 1:134,409,832...134,496,073
Ensembl chr 1:134,409,857...134,484,312 		JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308 		JBrowse link
G Bmf Bcl2 modifying factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,499,534...105,520,159
Ensembl chr 3:105,499,538...105,520,145 		JBrowse link
G Bnc1 basonuclin zinc finger protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,917,676...135,943,333
Ensembl chr 1:135,917,687...135,943,333 		JBrowse link
G Bnip2 BCL2 interacting protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:70,640,436...70,661,782
Ensembl chr 8:70,640,445...70,675,590 		JBrowse link
G Btbd1 BTB domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,734,549...135,773,067
Ensembl chr 1:135,734,589...135,771,981 		JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547 		JBrowse link
G C1h15orf40 similar to human chromosome 15 open reading frame 40 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,725,869...135,732,028
Ensembl chr 1:135,717,545...135,732,039 		JBrowse link
G C2cd4a C2 calcium-dependent domain containing 4A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:68,467,017...68,469,781
Ensembl chr 8:68,466,664...68,470,031 		JBrowse link
G C2cd4b C2 calcium-dependent domain containing 4B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:68,372,793...68,396,477
Ensembl chr 8:68,384,847...68,396,328 		JBrowse link
G C3h15orf48 similar to human chromosome 15 open reading frame 48 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,719,952...109,723,505
Ensembl chr 3:109,719,897...109,724,006
Ensembl chr 3:109,719,897...109,724,006 		JBrowse link
G C3h15orf62 similar to human chromosome 15 open reading frame 62 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,164,179...106,167,404
Ensembl chr 3:106,157,382...106,167,831 		JBrowse link
G C8h15orf39 similar to human chromosome 15 open reading frame 39 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,646,324...57,655,896
Ensembl chr 8:57,645,756...57,655,941 		JBrowse link
G C8h15orf61 similar to human chromosome 15 open reading frame 61 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:63,868,125...63,872,863
Ensembl chr 8:63,868,125...63,872,751 		JBrowse link
G Calml4 calmodulin-like 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:63,323,426...63,335,234
Ensembl chr 8:63,323,351...63,335,234 		JBrowse link
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,407,518...107,457,858
Ensembl chr 3:107,407,850...107,457,858 		JBrowse link
G Car12 carbonic anhydrase 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:67,274,739...67,330,428
Ensembl chr 8:67,274,359...67,330,440 		JBrowse link
G Catsper2 cation channel, sperm associated 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,368,654...108,389,380
Ensembl chr 3:108,368,668...108,388,050 		JBrowse link
G Ccdc32 coiled-coil domain containing 32 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,998,429...106,010,985
Ensembl chr 3:105,998,430...106,010,975 		JBrowse link
G Ccdc33 coiled-coil domain containing 33 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,434,798...58,534,338
Ensembl chr 8:58,435,661...58,534,370 		JBrowse link
G Ccdc9b coiled-coil domain containing 9B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,736,120...105,745,039
Ensembl chr 3:105,739,174...105,744,697 		JBrowse link
G Ccnb2 cyclin B2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:71,087,594...71,100,794
Ensembl chr 8:71,087,595...71,100,874 		JBrowse link
G Ccndbp1 cyclin D1 binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,962,402...107,974,234
Ensembl chr 3:107,962,261...107,974,233 		JBrowse link
G Ccpg1 cell cycle progression 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:73,719,960...73,752,437
Ensembl chr 8:73,719,955...73,752,430 		JBrowse link
G Cd276 Cd276 molecule ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,937,751...58,968,082
Ensembl chr 8:58,937,751...58,968,380 		JBrowse link
G Cdan1 codanin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,675,147...107,689,811
Ensembl chr 3:107,673,645...107,689,773 		JBrowse link
G Cdin1 CDAN1 interacting nuclease 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:102,441,553...102,646,935
Ensembl chr 3:102,441,704...102,646,682 		JBrowse link
G Celf6 CUGBP, Elav-like family member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:59,975,095...60,006,060
Ensembl chr 8:59,975,088...60,005,041 		JBrowse link
G Cemip cell migration inducing hyaluronidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:137,906,921...138,062,430
Ensembl chr 1:137,908,920...138,062,415 		JBrowse link
G Cep152 centrosomal protein 152 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:112,803,185...112,878,298
Ensembl chr 3:112,810,425...112,878,458
Ensembl chr 3:112,810,425...112,878,458 		JBrowse link
G Cfap161 cilia and flagella associated protein 161 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:137,743,783...137,768,685
Ensembl chr 1:137,743,784...137,768,730 		JBrowse link
G Cgnl1 cingulin-like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:72,273,401...72,424,842
Ensembl chr 8:72,275,645...72,422,917 		JBrowse link
G Chac1 ChaC glutathione-specific gamma-glutamylcyclotransferase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,342,302...106,345,526
Ensembl chr 3:106,342,302...106,345,526 		JBrowse link
G Chp1 calcineurin-like EF-hand protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,536,009...106,571,255
Ensembl chr 3:106,536,004...106,571,251 		JBrowse link
G Chrm5 cholinergic receptor, muscarinic 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:99,284,846...99,337,252
Ensembl chr 3:99,284,846...99,337,252 		JBrowse link
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,401,668...55,415,165
Ensembl chr 8:55,401,702...55,415,165 		JBrowse link
G Chrna5 cholinergic receptor nicotinic alpha 5 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,369,794...55,398,526
Ensembl chr 8:55,369,794...55,398,146 		JBrowse link
G Chrnb4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,417,583...55,437,027
Ensembl chr 8:55,418,313...55,437,027 		JBrowse link
G Chst14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,916,481...105,918,538
Ensembl chr 3:105,916,466...105,918,548 		JBrowse link
G Ciao2a cytosolic iron-sulfur assembly component 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:66,670,533...66,682,455
Ensembl chr 8:66,670,483...66,682,455 		JBrowse link
G Cib1 calcium and integrin binding 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:134,178,331...134,183,895
Ensembl chr 1:134,178,331...134,213,423 		JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:54,930,265...54,947,157 JBrowse link
G Cilp cartilage intermediate layer protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,777,281...65,792,251
Ensembl chr 8:65,777,281...65,792,251 		JBrowse link
G Cimap1c ciliary microtubule associated protein 1C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,248,746...57,281,084
Ensembl chr 8:57,248,746...57,281,004 		JBrowse link
G Ckmt1 creatine kinase, mitochondrial 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,329,859...108,335,760
Ensembl chr 3:108,330,705...108,335,758 		JBrowse link
G Clk3 CDC-like kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,152,155...58,167,196
Ensembl chr 8:58,152,155...58,168,181 		JBrowse link
G Cln6 CLN6, transmembrane ER protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360 		JBrowse link
G Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit X ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,805,460...65,845,643
Ensembl chr 8:65,805,511...65,845,082 		JBrowse link
G Commd4 COMM domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,566,236...57,569,701
Ensembl chr 8:57,566,236...57,569,760 		JBrowse link
G Cops2 COP9 signalosome subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:113,084,174...113,110,090
Ensembl chr 3:113,084,176...113,109,947 		JBrowse link
G Coro2b coronin 2B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:62,906,861...63,017,295
Ensembl chr 8:62,906,867...63,017,302 		JBrowse link
G Cox5a cytochrome c oxidase subunit 5A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,922,374...57,933,781
Ensembl chr 8:57,922,290...57,933,781 		JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760 		JBrowse link
G Cplx3 complexin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,003,535...58,010,297
Ensembl chr 8:58,003,535...58,010,297 		JBrowse link
G Crabp1 cellular retinoic acid binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,138,363...55,159,360
Ensembl chr 8:55,151,285...55,159,360 		JBrowse link
G Crtc3 CREB regulated transcription coactivator 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:134,552,830...134,655,929
Ensembl chr 1:134,554,696...134,655,500 		JBrowse link
G Csk C-terminal Src kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,029,748...58,048,742
Ensembl chr 8:58,029,749...58,048,292 		JBrowse link
G Csnk1g1 casein kinase 1, gamma 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:66,439,760...66,577,247
Ensembl chr 8:66,439,864...66,572,826 		JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,264,962...57,300,010
Ensembl chr 8:57,264,962...57,300,010 		JBrowse link
G Ctdspl2 CTD small phosphatase like 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,915,263...108,970,620
Ensembl chr 3:108,915,280...108,967,227 		JBrowse link
G Ctsh cathepsin H ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:90,608,941...90,627,824
Ensembl chr 8:90,608,941...90,627,824 		JBrowse link
G Ctxn2 cortexin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:112,390,972...112,401,321
Ensembl chr 3:112,391,335...112,401,319 		JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312 		JBrowse link
G Dapk2 death-associated protein kinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:66,706,536...66,825,567
Ensembl chr 8:66,706,609...66,825,567 		JBrowse link
G Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,322,920...65,436,331
Ensembl chr 8:65,322,941...65,436,330 		JBrowse link
G Det1 DET1 partner of COP1 E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:132,749,736...132,765,963
Ensembl chr 1:132,749,756...132,765,923 		JBrowse link
G Dis3l DIS3-like exosome 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:64,803,925...64,840,306
Ensembl chr 8:64,803,927...64,840,165 		JBrowse link
G Disp2 dispatched RND transporter family member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,762,303...105,777,826
Ensembl chr 3:105,762,305...105,777,800 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931 		JBrowse link
G Dmxl2 Dmx-like 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:54,741,164...54,884,948
Ensembl chr 8:54,741,160...54,885,161 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292 		JBrowse link
G Dnaja4 DnaJ heat shock protein family (Hsp40) member A4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,085,246...55,102,715
Ensembl chr 8:55,085,464...55,101,207 		JBrowse link
G Dnajc17 DnaJ heat shock protein family (Hsp40) member C17 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,162,197...106,195,771
Ensembl chr 3:106,162,197...106,195,751 		JBrowse link
G Dph6 diphthamine biosynthesis 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:101,307,229...101,437,463
Ensembl chr 3:101,307,231...101,534,603 		JBrowse link
G Dpp8 dipeptidylpeptidase 8 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,550,620...65,605,828
Ensembl chr 8:65,550,677...65,605,825 		JBrowse link
G Dtwd1 DTW domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:113,392,402...113,409,322
Ensembl chr 3:113,392,457...113,408,105 		JBrowse link
G Duox1 dual oxidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,260,526...109,295,588
Ensembl chr 3:109,262,397...109,295,563 		JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902 		JBrowse link
G Duoxa1 dual oxidase maturation factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,249,815...109,260,511
Ensembl chr 3:109,249,923...109,260,499 		JBrowse link
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,245,337...109,249,055
Ensembl chr 3:109,245,476...109,248,968 		JBrowse link
G Dut deoxyuridine triphosphatase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:112,498,864...112,509,994
Ensembl chr 3:112,498,982...112,510,771 		JBrowse link
G Edc3 enhancer of mRNA decapping 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,106,147...58,151,685
Ensembl chr 8:58,106,175...58,151,671 		JBrowse link
G Efl1 elongation factor like GTPase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:136,638,527...136,763,518
Ensembl chr 1:136,638,527...136,763,518 		JBrowse link
G Ehd4 EH-domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,058,191...107,121,985
Ensembl chr 3:107,058,958...107,122,002 		JBrowse link
G Eid1 EP300 interacting inhibitor of differentiation 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:112,922,961...112,924,680
Ensembl chr 3:112,922,668...112,924,752 		JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630 		JBrowse link
G Eif3j eukaryotic translation initiation factor 3, subunit J ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,985,103...109,007,341
Ensembl chr 3:108,985,118...109,007,953 		JBrowse link
G Ell3 elongation factor for RNA polymerase II 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,413,035...108,417,181
Ensembl chr 3:108,410,448...108,417,132 		JBrowse link
G Emc4 ER membrane protein complex subunit 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:99,169,711...99,174,730
Ensembl chr 3:99,169,711...99,174,729 		JBrowse link
G Emc7 ER membrane protein complex subunit 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:99,263,933...99,274,365
Ensembl chr 3:99,263,980...99,274,360 		JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932 		JBrowse link
G Etfa electron transfer flavoprotein subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,835,115...55,891,890
Ensembl chr 8:55,835,134...55,891,969 		JBrowse link
G Exd1 exonuclease 3'-5' domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,507,839...106,535,922
Ensembl chr 3:106,508,076...106,535,922 		JBrowse link
G Fah fumarylacetoacetate hydrolase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505 		JBrowse link
G Fam219b family with sequence similarity 219, member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,941,327...57,946,916
Ensembl chr 8:57,941,294...57,946,906 		JBrowse link
G Fam227b family with sequence similarity 227, member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:113,226,662...113,392,396
Ensembl chr 3:113,233,205...113,392,320 		JBrowse link
G Fam81a family with sequence similarity 81, member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:70,762,852...70,821,898
Ensembl chr 8:70,763,614...70,821,875 		JBrowse link
G Fam98b family with sequence similarity 98, member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:104,134,803...104,164,249
Ensembl chr 3:104,134,824...104,163,704 		JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Fbxl22 F-box and leucine-rich repeat protein 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:67,069,998...67,076,685
Ensembl chr 8:67,069,998...67,076,685 		JBrowse link
G Fbxo22 F-box protein 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,579,906...55,595,981
Ensembl chr 8:55,579,891...55,596,148 		JBrowse link
G Fem1b fem-1 homolog B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:63,265,301...63,278,577
Ensembl chr 8:63,265,301...63,278,577 		JBrowse link
G Fes FES proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,337,698...134,346,934
Ensembl chr 1:134,337,698...134,346,934 		JBrowse link
G Fgf7 fibroblast growth factor 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929 		JBrowse link
G Foxb1 forkhead box B1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:70,407,221...70,409,841
Ensembl chr 8:70,408,186...70,409,781 		JBrowse link
G Frmd5 FERM domain containing 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,492,099...108,763,715
Ensembl chr 3:108,474,562...108,763,498 		JBrowse link
G Fsd2 fibronectin type III and SPRY domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,484,002...135,522,517
Ensembl chr 1:135,489,266...135,522,472 		JBrowse link
G Fsip1 fibrous sheath interacting protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,074,584...105,217,180
Ensembl chr 3:105,068,543...105,217,167 		JBrowse link
G Furin furin (paired basic amino acid cleaving enzyme) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,348,142...134,361,182
Ensembl chr 1:134,348,144...134,364,314 		JBrowse link
G Gabpb1 GA binding protein transcription factor subunit beta 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:113,879,972...113,924,742
Ensembl chr 3:113,879,973...113,923,696 		JBrowse link
G Galk2 galactokinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:113,110,057...113,243,014
Ensembl chr 3:113,110,030...113,233,306 		JBrowse link
G Ganc glucosidase, alpha; neutral C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,353,369...107,406,104
Ensembl chr 3:107,353,369...107,405,241 		JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129 		JBrowse link
G Gchfr GTP cyclohydrolase I feedback regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,158,046...106,162,080
Ensembl chr 3:106,159,394...106,162,080 		JBrowse link
G Gcnt3 glucosaminyl (N-acetyl) transferase 3, mucin type ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:70,689,173...70,696,476
Ensembl chr 8:70,686,844...70,699,562 		JBrowse link
G Gdpgp1 GDP-D-glucose phosphorylase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:134,184,119...134,193,281
Ensembl chr 1:134,183,696...134,219,783 		JBrowse link
G Gjd2 gap junction protein, delta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:100,771,450...100,776,134
Ensembl chr 3:100,772,062...100,775,061 		JBrowse link
G Glce glucuronic acid epimerase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:62,546,104...62,612,144
Ensembl chr 8:62,546,107...62,612,040 		JBrowse link
G Gldn gliomedin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196 		JBrowse link
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:76,076,120...76,105,069
Ensembl chr 8:76,073,306...76,105,069 		JBrowse link
G Golm2 golgi membrane protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,827,017...108,896,207
Ensembl chr 3:108,827,047...108,896,207 		JBrowse link
G Gpr176 G protein-coupled receptor 176 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,236,794...105,337,664
Ensembl chr 3:105,236,795...105,337,226 		JBrowse link
G Gramd2a GRAM domain containing 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:60,079,744...60,117,788
Ensembl chr 8:60,080,338...60,115,842 		JBrowse link
G Grem1 gremlin 1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:100,512,317...100,524,001
Ensembl chr 3:100,512,313...100,524,082 		JBrowse link
G Gtf2a2 general transcription factor 2A subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:70,662,447...70,675,576
Ensembl chr 8:70,662,428...70,675,569 		JBrowse link
G Hacd3 3-hydroxyacyl-CoA dehydratase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,501,240...65,538,507
Ensembl chr 8:65,501,240...65,538,507 		JBrowse link
G Hapln3 hyaluronan and proteoglycan link protein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,046,465...133,064,665
Ensembl chr 1:133,046,467...133,080,177 		JBrowse link
G Haus2 HAUS augmin like complex subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,553,146...107,565,982
Ensembl chr 3:107,553,161...107,565,157 		JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639 		JBrowse link
G Hdc histidine decarboxylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:113,847,256...113,865,334
Ensembl chr 3:113,847,260...113,865,341 		JBrowse link
G Hddc3 HD domain containing 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,299,469...134,301,757
Ensembl chr 1:134,299,468...134,301,757 		JBrowse link
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:66,857,169...67,070,318
Ensembl chr 8:66,856,935...67,070,312 		JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013 		JBrowse link
G Hmg20a high mobility group 20A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:56,819,673...56,895,658
Ensembl chr 8:56,819,659...56,895,656 		JBrowse link
G Homer2 homer scaffold protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,558,977...135,659,780
Ensembl chr 1:135,567,414...135,659,772 		JBrowse link
G Hykk hydroxylysine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,315,919...55,339,720
Ensembl chr 8:55,315,969...55,337,339 		JBrowse link
G Hypk Huntingtin interacting protein K ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,434,997...108,436,370
Ensembl chr 3:108,432,539...108,436,370 		JBrowse link
G Ice2 interactor of little elongation complex ELL subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:70,043,419...70,085,217
Ensembl chr 8:70,043,424...70,084,995 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025 		JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:54,971,694...54,991,085
Ensembl chr 8:54,971,740...54,991,084 		JBrowse link
G Igdcc3 immunoglobulin superfamily, DCC subclass, member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,661,165...65,707,961
Ensembl chr 8:65,661,196...65,707,959 		JBrowse link
G Igdcc4 immunoglobulin superfamily, DCC subclass, member 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,621,893...65,657,651
Ensembl chr 8:65,621,897...65,657,648 		JBrowse link
G Il16 interleukin 16 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130 		JBrowse link
G Imp3 IMP U3 small nucleolar ribonucleoprotein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,339,528...57,340,416
Ensembl chr 8:57,339,496...57,340,414 		JBrowse link
G Ino80 INO80 complex ATPase subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,368,455...106,465,716
Ensembl chr 3:106,368,455...106,467,911 		JBrowse link
G Insyn1 inhibitory synaptic factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,904,153...58,914,850
Ensembl chr 8:58,904,153...58,914,843 		JBrowse link
G Ints14 integrator complex subunit 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,475,788...65,500,807
Ensembl chr 8:65,475,910...65,500,804 		JBrowse link
G Iqch IQ motif containing H ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:63,889,816...64,083,248
Ensembl chr 8:63,892,370...64,083,223 		JBrowse link
G Iqgap1 IQ motif containing GTPase activating protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:134,679,581...134,769,776
Ensembl chr 1:134,679,586...134,769,755 		JBrowse link
G Ireb2 iron responsive element binding protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,228,080...55,311,613
Ensembl chr 8:55,228,085...55,311,611 		JBrowse link
G Isg20 interferon stimulated exonuclease gene 20 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:132,829,303...132,837,027
Ensembl chr 1:132,815,123...132,837,027 		JBrowse link
G Isl2 ISL LIM homeobox 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,923,805...55,928,790
Ensembl chr 8:55,923,805...55,928,790 		JBrowse link
G Islr immunoglobulin superfamily containing leucine-rich repeat ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,571,155...58,574,128
Ensembl chr 8:58,570,777...58,574,130 		JBrowse link
G Islr2 immunoglobulin superfamily containing leucine-rich repeat 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,608,165...58,616,246
Ensembl chr 8:58,608,709...58,614,650 		JBrowse link
G Itga11 integrin subunit alpha 11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:63,145,998...63,254,714
Ensembl chr 8:63,146,001...63,254,407 		JBrowse link
G Itpka inositol-trisphosphate 3-kinase A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,726,036...106,734,601
Ensembl chr 3:106,726,036...106,734,600 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575 		JBrowse link
G Jmjd7 jumonji domain containing 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,998,454...107,004,538
Ensembl chr 3:106,998,477...107,004,538 		JBrowse link
G Katnbl1 katanin regulatory subunit B1 like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:99,183,748...99,225,789
Ensembl chr 3:99,183,716...99,225,786 		JBrowse link
G Kbtbd13 kelch repeat and BTB domain containing 13 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,909,821...65,911,558 JBrowse link
G Kif23 kinesin family member 23 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:62,397,908...62,425,162
Ensembl chr 8:62,397,948...62,425,072 		JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576 		JBrowse link
G Klhl25 kelch-like family member 25 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,724,894...129,750,142
Ensembl chr 1:129,722,026...129,750,227 		JBrowse link
G Knl1 kinetochore scaffold 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,029,627...106,091,915
Ensembl chr 3:106,029,661...106,091,915 		JBrowse link
G Knstrn kinetochore-localized astrin/SPAG5 binding protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,800,762...105,820,555
Ensembl chr 3:105,800,954...105,820,715 		JBrowse link
G Lactb lactamase, beta ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:67,571,504...67,587,592
Ensembl chr 8:67,571,500...67,587,539 		JBrowse link
G Larp6 La ribonucleoprotein 6, translational regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:61,183,744...61,205,548
Ensembl chr 8:61,184,116...61,205,535 		JBrowse link
G Lcmt2 leucine carboxyl methyltransferase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,099,960...108,102,084
Ensembl chr 3:108,099,961...108,102,084 		JBrowse link
G Lctl lactase-like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:64,618,356...64,654,851
Ensembl chr 8:64,618,350...64,639,357 		JBrowse link
G Ldhal6b lactate dehydrogenase A-like 6B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:45,997,845...45,999,268
Ensembl chr 1:45,991,991...45,999,272 		JBrowse link
G Leo1 LEO1 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:76,199,547...76,223,983
Ensembl chr 8:76,199,099...76,223,983 		JBrowse link
G Lingo1 leucine rich repeat and Ig domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,011,272...57,193,496
Ensembl chr 8:57,010,007...57,196,544 		JBrowse link
G Lipc lipase C, hepatic type ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464 		JBrowse link
G Lman1l lectin, mannose-binding, 1 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,010,839...58,029,599
Ensembl chr 8:58,010,839...58,023,681 		JBrowse link
G LOC120094549 U5 spliceosomal RNA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,720,876...65,720,991
Ensembl chr 8:65,720,876...65,720,991 		JBrowse link
G LOC120094551 U6 spliceosomal RNA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:63,594,040...63,594,146
Ensembl chr 8:63,594,040...63,594,146 		JBrowse link
G Loxl1 lysyl oxidase-like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356 		JBrowse link
G Lpcat4 lysophosphatidylcholine acyltransferase 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:99,044,729...99,052,963
Ensembl chr 3:99,044,729...99,052,875 		JBrowse link
G Lrrc49 leucine rich repeat containing 49 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:61,053,264...61,160,695
Ensembl chr 8:61,053,267...61,160,850 		JBrowse link
G Lrrc57 leucine rich repeat containing 57 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,544,786...107,553,256
Ensembl chr 3:107,547,405...107,553,256 		JBrowse link
G Ltk leukocyte receptor tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,734,675...106,741,552
Ensembl chr 3:106,734,676...106,743,369 		JBrowse link
G Lysmd2 LysM domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:76,378,984...76,394,396
Ensembl chr 8:76,379,219...76,394,654 		JBrowse link
G Man2a2 mannosidase, alpha, class 2A, member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,304,714...134,327,611
Ensembl chr 1:134,306,236...134,327,315 		JBrowse link
G Man2c1 mannosidase, alpha, class 2C, member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,537,879...57,549,691
Ensembl chr 8:57,537,321...57,549,690 		JBrowse link
G Map1a microtubule-associated protein 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,263,217...108,283,936
Ensembl chr 3:108,263,151...108,282,899 		JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147 		JBrowse link
G Map2k5 mitogen activated protein kinase kinase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:63,625,220...63,852,090
Ensembl chr 8:63,625,221...63,851,983 		JBrowse link
G Mapk6 mitogen-activated protein kinase 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:76,146,650...76,169,767
Ensembl chr 8:76,146,690...76,169,720 		JBrowse link
G Mapkbp1 mitogen activated protein kinase binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,947,342...106,998,368
Ensembl chr 3:106,947,827...106,996,199 		JBrowse link
G Megf11 multiple EGF-like-domains 11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:64,892,312...65,218,984
Ensembl chr 8:64,892,387...65,216,061 		JBrowse link
G Meis2 Meis homeobox 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:102,742,904...102,944,833
Ensembl chr 3:102,742,900...102,949,696 		JBrowse link
G Mesd mesoderm development LRP chaperone ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:137,866,707...137,879,999
Ensembl chr 1:137,874,242...137,879,999 		JBrowse link
G Mesp1 mesoderm posterior bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,738,357...133,739,875
Ensembl chr 1:133,738,357...133,739,875 		JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,756,601...133,759,207
Ensembl chr 1:133,756,601...133,759,198 		JBrowse link
G Mex3b mex-3 RNA binding family member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:136,855,130...136,859,365
Ensembl chr 1:136,855,130...136,859,354 		JBrowse link
G Mfap1a microfibrillar-associated protein 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,440,163...108,456,744
Ensembl chr 3:108,438,845...108,456,750 		JBrowse link
G Mfge8 milk fat globule EGF and factor V/VIII domain containing ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,064,665...133,080,069
Ensembl chr 1:133,064,665...133,080,073 		JBrowse link
G Mga MAX dimerization protein MGA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043 		JBrowse link
G Minar1 membrane integral NOTCH2 associated receptor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:90,137,374...90,169,152
Ensembl chr 8:90,137,374...90,169,137 		JBrowse link
G Mindy2 MINDY lysine 48 deubiquitinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:71,268,274...71,327,698
Ensembl chr 8:71,256,447...71,328,453 		JBrowse link
G Mir184 microRNA 184 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:90,343,134...90,343,210
Ensembl chr 8:90,343,134...90,343,210 		JBrowse link
G Mir9-3 microRNA 9-3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,440,049...133,440,138 JBrowse link
G Mns1 meiosis-specific nuclear structural 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:73,148,877...73,169,570
Ensembl chr 8:73,148,877...73,176,925 		JBrowse link
G Morf4l1 mortality factor 4 like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:90,642,988...90,664,518
Ensembl chr 8:90,642,988...90,664,519 		JBrowse link
G Mpi mannose phosphate isomerase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,947,883...57,956,205
Ensembl chr 8:57,947,893...57,956,150 		JBrowse link
G Mrpl46 mitochondrial ribosomal protein L46 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:132,698,872...132,707,639
Ensembl chr 1:132,698,601...132,707,628 		JBrowse link
G Mrps11 mitochondrial ribosomal protein S11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:132,707,601...132,717,253
Ensembl chr 1:132,680,420...132,717,253 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841 		JBrowse link
G Mthfs methenyltetrahydrofolate synthetase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:89,729,498...89,801,998
Ensembl chr 8:89,729,508...89,799,089 		JBrowse link
G Myef2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:112,338,241...112,374,122
Ensembl chr 3:112,338,241...112,374,181 		JBrowse link
G Myo1e myosin IE ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:70,887,934...71,080,180
Ensembl chr 8:70,887,870...71,080,169 		JBrowse link
G Myo5a myosin VA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918 		JBrowse link
G Myo5c myosin VC ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:75,989,497...76,066,485
Ensembl chr 8:75,989,528...76,066,483 		JBrowse link
G Myo9a myosin IXA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:60,149,234...60,352,330
Ensembl chr 8:60,149,234...60,350,514 		JBrowse link
G Myzap myocardial zonula adherens protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:72,155,817...72,243,036
Ensembl chr 8:72,131,530...72,243,036 		JBrowse link
G Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,639,025...106,650,549
Ensembl chr 3:106,639,851...106,650,212 		JBrowse link
G Nedd4 NEDD4 E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:73,384,095...73,468,951
Ensembl chr 8:73,383,695...73,468,951 		JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258 		JBrowse link
G Neo1 neogenin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:59,273,860...59,426,486
Ensembl chr 8:59,275,569...59,430,348 		JBrowse link
G Ngrn neugrin, neurite outgrowth associated ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:134,213,235...134,219,348
Ensembl chr 1:134,213,456...134,219,339 		JBrowse link
G Nmb neuromedin B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,869,446...134,875,507
Ensembl chr 1:134,869,446...134,872,190 		JBrowse link
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942 		JBrowse link
G Nptn neuroplastin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,996,873...59,063,402
Ensembl chr 8:58,996,887...59,063,401 		JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:60,365,581...60,373,383
Ensembl chr 8:60,366,124...60,373,163 		JBrowse link
G Nrg4 neuregulin 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,586,253...55,677,829
Ensembl chr 8:55,592,893...55,677,483 		JBrowse link
G Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase ISS OMIM:210900 MouseDO NCBI chr 7:90,936,112...91,173,435
Ensembl chr 7:90,936,112...91,164,899 		JBrowse link
G Ntrk3 neurotrophic receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:132,116,472...132,503,849
Ensembl chr 1:132,132,849...132,503,286 		JBrowse link
G Nusap1 nucleolar and spindle associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,603,273...106,633,428
Ensembl chr 3:106,603,289...106,633,624 		JBrowse link
G Nutm1 NUT midline carcinoma, family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:99,053,510...99,064,311
Ensembl chr 3:99,053,510...99,064,311 		JBrowse link
G Oaz2 ornithine decarboxylase antizyme 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:66,199,694...66,213,513
Ensembl chr 8:66,199,706...66,231,453 		JBrowse link
G Oip5 Opa interacting protein 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,593,746...106,603,281
Ensembl chr 3:106,593,760...106,603,250 		JBrowse link
G Onecut1 one cut homeobox 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:75,599,432...75,633,598
Ensembl chr 8:75,599,740...75,627,277 		JBrowse link
G Pak6 p21 (RAC1) activated kinase 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,638,248...105,674,399
Ensembl chr 3:105,638,653...105,672,975 		JBrowse link
G Paqr5 progestin and adipoQ receptor family member 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:62,431,867...62,513,688
Ensembl chr 8:62,431,867...62,513,688 		JBrowse link
G Parp16 poly (ADP-ribose) polymerase family, member 16 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,731,152...65,749,438
Ensembl chr 8:65,727,706...65,749,433 		JBrowse link
G Parp6 poly (ADP-ribose) polymerase family, member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:60,016,594...60,049,108
Ensembl chr 8:60,016,877...60,049,108 		JBrowse link
G Patl2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,072,958...109,087,425
Ensembl chr 3:109,075,290...109,083,253 		JBrowse link
G Pclaf PCNA clamp associated factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:66,420,606...66,432,994
Ensembl chr 8:66,420,587...66,432,994
Ensembl chr 8:66,420,587...66,432,994 		JBrowse link
G Pdcd7 programmed cell death 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,862,606...65,877,333
Ensembl chr 8:65,862,387...65,877,333 		JBrowse link
G Pde8a phosphodiesterase 8A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,166,143...135,288,986
Ensembl chr 1:135,166,237...135,288,024 		JBrowse link
G Pdia3 protein disulfide isomerase family A, member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,388,189...108,412,013
Ensembl chr 3:108,388,245...108,413,236 		JBrowse link
G Peak1 pseudopodium-enriched atypical kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:56,605,040...56,819,748
Ensembl chr 8:56,609,015...56,819,096 		JBrowse link
G Pex11a peroxisomal biogenesis factor 11 alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,680,091...133,687,172
Ensembl chr 1:133,680,091...133,687,172 		JBrowse link
G Phgr1 proline, histidine and glycine rich 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,742,822...105,760,835
Ensembl chr 3:105,757,581...105,760,832 		JBrowse link
G Pias1 protein inhibitor of activated STAT, 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:63,338,150...63,451,670
Ensembl chr 8:63,338,150...63,438,905 		JBrowse link
G Pierce2 piercer of microtubule wall 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:73,715,383...73,719,849
Ensembl chr 8:73,715,383...73,719,849 		JBrowse link
G Pif1 PIF1 5'-to-3' DNA helicase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:66,110,641...66,120,202
Ensembl chr 8:66,111,072...66,120,200 		JBrowse link
G Pigb phosphatidylinositol glycan anchor biosynthesis, class B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:73,751,756...73,775,679
Ensembl chr 8:73,751,798...73,775,679 		JBrowse link
G Pkm pyruvate kinase M1/2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:60,057,629...60,079,600
Ensembl chr 8:60,057,402...60,079,599 		JBrowse link
G Pla2g4b phospholipase A2 group IVB ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,004,238...107,013,853
Ensembl chr 3:107,005,489...107,013,853 		JBrowse link
G Pla2g4d phospholipase A2 group IVD ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,220,973...107,242,224
Ensembl chr 3:107,220,978...107,242,224 		JBrowse link
G Pla2g4e phospholipase A2, group IVE ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,132,540...107,198,609
Ensembl chr 3:107,132,541...107,198,233 		JBrowse link
G Pla2g4f phospholipase A2, group IVF ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,249,053...107,266,201
Ensembl chr 3:107,250,075...107,264,689 		JBrowse link
G Plcb2 phospholipase C, beta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,683,676...105,704,384
Ensembl chr 3:105,684,815...105,704,302 		JBrowse link
G Plekho2 pleckstrin homology domain containing O2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:66,079,106...66,105,283
Ensembl chr 8:66,078,448...66,105,266 		JBrowse link
G Plin1 perilipin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,664,294...133,676,854
Ensembl chr 1:133,664,892...133,676,828 		JBrowse link
G Pml PML nuclear body scaffold ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Polr2m RNA polymerase II subunit M ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:72,131,992...72,139,423
Ensembl chr 8:72,131,530...72,243,036 		JBrowse link
G Ppcdc phosphopantothenoylcysteine decarboxylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,815,195...57,842,863
Ensembl chr 8:57,815,195...58,000,570 		JBrowse link
G Ppib peptidylprolyl isomerase B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:66,603,877...66,609,734
Ensembl chr 8:66,603,861...66,630,428 		JBrowse link
G Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,284,120...108,327,683
Ensembl chr 3:108,284,120...108,323,428 		JBrowse link
G Ppp1r14d protein phosphatase 1, regulatory (inhibitor) subunit 14D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,205,043...106,219,290
Ensembl chr 3:106,205,046...106,219,649 		JBrowse link
G Prc1 protein regulator of cytokinesis 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,250,086...134,271,765
Ensembl chr 1:134,250,081...134,271,765 		JBrowse link
G Prtg protogenin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:73,548,440...73,657,945
Ensembl chr 8:73,548,466...73,653,259 		JBrowse link
G Psma4 proteasome 20S subunit alpha 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,340,431...55,347,893
Ensembl chr 8:55,340,386...55,347,890 		JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580 		JBrowse link
G Ptpn9 protein tyrosine phosphatase, non-receptor type 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,391,290...57,472,352
Ensembl chr 8:57,391,259...57,470,952 		JBrowse link
G Pygo1 pygopus family PHD finger 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:73,666,210...73,684,873
Ensembl chr 8:73,665,593...73,684,869 		JBrowse link
G Rab11a RAB11a, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,223,698...65,246,461
Ensembl chr 8:65,222,949...65,246,525 		JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829 		JBrowse link
G Rab8b RAB8B, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:67,458,921...67,536,466
Ensembl chr 8:67,458,923...67,536,384 		JBrowse link
G Rad51 RAD51 recombinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,099,753...106,125,038
Ensembl chr 3:106,100,381...106,125,035 		JBrowse link
G Ramac RNA guanine-7 methyltransferase activating subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,708,529...135,714,417
Ensembl chr 1:135,708,535...135,722,151 		JBrowse link
G Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:90,445,154...90,574,274
Ensembl chr 8:90,445,154...90,574,269 		JBrowse link
G Rasgrp1 RAS guanyl releasing protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:104,168,549...104,230,107
Ensembl chr 3:104,170,013...104,230,056 		JBrowse link
G Rasl12 RAS-like, family 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,917,840...65,931,885
Ensembl chr 8:65,917,840...65,932,741 		JBrowse link
G Rbpms2 RNA binding protein, mRNA processing factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:66,153,169...66,184,278
Ensembl chr 8:66,153,593...66,184,268 		JBrowse link
G Rccd1 RCC1 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,271,870...134,281,556
Ensembl chr 1:134,271,857...134,280,781 		JBrowse link
G Rcn2 reticulocalbin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:56,449,206...56,466,253
Ensembl chr 8:56,449,206...56,466,251 		JBrowse link
G Rec114 REC114 meiotic recombination protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:59,063,352...59,221,439
Ensembl chr 8:59,063,352...59,149,887 		JBrowse link
G Rfx7 regulatory factor X, 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:73,254,051...73,339,209
Ensembl chr 8:73,254,051...73,339,209 		JBrowse link
G Rhcg Rh family, C glycoprotein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,531,704...133,555,902
Ensembl chr 1:133,531,716...133,555,876 		JBrowse link
G Rhov ras homolog family member V ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,260,774...106,270,009
Ensembl chr 3:106,260,776...106,269,479 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296 		JBrowse link
G Rmdn3 regulator of microtubule dynamics 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,125,961...106,146,568
Ensembl chr 3:106,125,951...106,146,586 		JBrowse link
G Rnf111 ring finger protein 111 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:71,103,967...71,180,172
Ensembl chr 8:71,103,973...71,145,070 		JBrowse link
G Rora RAR-related orphan receptor A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:69,301,635...70,034,741
Ensembl chr 8:69,301,733...70,025,931 		JBrowse link
G Rpap1 RNA polymerase II associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,746,642...106,768,182
Ensembl chr 3:106,656,742...106,768,151 		JBrowse link
G Rpl4 ribosomal protein L4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:64,671,177...64,676,301
Ensembl chr 8:64,671,160...64,676,306 		JBrowse link
G Rplp1 ribosomal protein lateral stalk subunit P1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:62,394,008...62,395,341
Ensembl chr 8:62,393,177...62,395,339 		JBrowse link
G Rpp25 ribonuclease P and MRP subunit p25 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,907,352...57,908,732
Ensembl chr 8:57,907,352...57,908,732 		JBrowse link
G Rps17 ribosomal protein S17 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,295,920...135,298,506
Ensembl chr 1:135,295,919...135,298,535
Ensembl chr 8:135,295,919...135,298,535 		JBrowse link
G Rps27l ribosomal protein S27-like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:67,562,483...67,567,418
Ensembl chr 8:67,562,483...67,567,418 		JBrowse link
G Rpusd2 RNA pseudouridine synthase domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,017,759...106,023,010
Ensembl chr 3:106,017,864...106,023,251 		JBrowse link
G Rsl24d1 ribosomal L24 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:73,852,991...73,861,996
Ensembl chr 8:73,852,996...73,862,001 		JBrowse link
G Rtf1 Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,659,363...106,718,956
Ensembl chr 3:106,659,308...106,718,970 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961 		JBrowse link
G Saxo2 stabilizer of axonemal microtubules 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:136,596,445...136,638,444
Ensembl chr 1:136,623,493...136,638,454 		JBrowse link
G Scamp2 secretory carrier membrane protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,965,612...57,992,248
Ensembl chr 8:57,965,631...57,992,646 		JBrowse link
G Scamp5 secretory carrier membrane protein 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,845,831...57,884,516
Ensembl chr 8:57,846,659...57,872,027 		JBrowse link
G Scaper S-phase cyclin A-associated protein in the ER ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,932,717...56,332,222
Ensembl chr 8:55,933,306...56,332,122 		JBrowse link
G Scarna15 small Cajal body-specific RNA 15 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,484,620...135,484,683
Ensembl chr 1:135,484,559...135,484,685
Ensembl chr 1:135,484,559...135,484,685 		JBrowse link
G Scg3 secretogranin III ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:76,399,777...76,442,015
Ensembl chr 8:76,399,777...76,442,015 		JBrowse link
G Scg5 secretogranin V ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:100,544,101...100,588,558
Ensembl chr 3:100,544,099...100,588,463 		JBrowse link
G Sec11a SEC11 homolog A, signal peptidase complex subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,881,448...134,909,427
Ensembl chr 1:134,875,265...134,915,069 		JBrowse link
G Secisbp2l SECIS binding protein 2-like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:112,989,613...113,036,060
Ensembl chr 3:112,991,908...113,035,884 		JBrowse link
G Sema4b semaphorin 4B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:134,136,646...134,177,777
Ensembl chr 1:134,149,536...134,177,775 		JBrowse link
G Sema6d semaphorin 6D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:111,883,415...111,941,100
Ensembl chr 3:111,883,872...111,941,094 		JBrowse link
G Sema7a semaphorin 7A (John Milton Hagen blood group) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,348,448...58,370,536
Ensembl chr 8:58,348,448...58,370,536 		JBrowse link
G Senp8 SUMO peptidase family member, NEDD8 specific ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:60,135,446...60,148,836
Ensembl chr 8:60,121,714...60,148,928 		JBrowse link
G Serf2 small EDRK-rich factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,426,960...108,430,736
Ensembl chr 3:108,426,887...108,430,724 		JBrowse link
G Serinc4 serine incorporator 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,428,896...108,434,778
Ensembl chr 3:108,428,897...108,434,778 		JBrowse link
G Sh2d7 SH2 domain containing 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:54,918,399...54,930,129
Ensembl chr 8:54,918,406...54,929,726 		JBrowse link
G Sh3gl3 SH3 domain containing GRB2 like 3, endophilin A3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:136,124,500...136,255,669
Ensembl chr 1:136,124,499...136,255,584 		JBrowse link
G Shc4 SHC adaptor protein 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:112,880,598...112,974,216
Ensembl chr 3:112,880,600...112,974,366 		JBrowse link
G Shf Src homology 2 domain containing F ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,296,517...109,316,315
Ensembl chr 3:109,296,784...109,316,328 		JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192 		JBrowse link
G Skic8 SKI8 subunit of superkiller complex ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,103,542...55,120,837
Ensembl chr 8:55,103,545...55,120,813 		JBrowse link
G Skor1 SKI family transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:63,599,153...63,609,727
Ensembl chr 8:63,599,165...63,607,756 		JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899 		JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258 		JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,440,842...65,466,001
Ensembl chr 8:65,440,730...65,466,001 		JBrowse link
G Slc24a5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:112,319,349...112,338,889
Ensembl chr 3:112,319,308...112,339,231 		JBrowse link
G Slc27a2 solute carrier family 27 member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:113,804,728...113,842,208
Ensembl chr 3:113,804,728...113,842,208 		JBrowse link
G Slc28a1 solute carrier family 28 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,079,375...135,122,791
Ensembl chr 1:135,081,385...135,122,464 		JBrowse link
G Slc28a2 solute carrier family 28 member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,324,815...109,387,702
Ensembl chr 3:109,366,996...109,387,702 		JBrowse link
G Slc30a4 solute carrier family 30 member 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,753,270...109,775,306
Ensembl chr 3:109,753,273...109,775,306 		JBrowse link
G Slc51b SLC51 subunit beta ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,931,891...65,939,953
Ensembl chr 8:65,931,890...65,940,145 		JBrowse link
G Sltm SAFB-like, transcription modulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:71,215,995...71,261,821
Ensembl chr 8:71,216,612...71,261,825 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763 		JBrowse link
G Snap23 synaptosome associated protein 23 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,514,088...107,546,177
Ensembl chr 3:107,514,131...107,544,320 		JBrowse link
G Snapc5 small nuclear RNA activating complex, polypeptide 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:64,677,204...64,680,769
Ensembl chr 8:64,677,205...64,681,964 		JBrowse link
G Snupn snurportin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,347,412...57,388,345
Ensembl chr 8:57,348,130...57,380,912 		JBrowse link
G Snx1 sorting nexin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:66,630,086...66,670,418
Ensembl chr 8:66,630,086...66,670,360 		JBrowse link
G Snx22 sorting nexin 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:66,609,914...66,612,932
Ensembl chr 8:66,609,970...66,612,850 		JBrowse link
G Snx33 sorting nexin 33 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,315,861...57,328,522
Ensembl chr 8:57,317,161...57,327,538 		JBrowse link
G Sord sorbitol dehydrogenase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,184,697...109,216,133
Ensembl chr 3:109,184,676...109,216,133 		JBrowse link
G Spesp1 sperm equatorial segment protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:62,751,313...62,766,657
Ensembl chr 8:62,751,297...62,766,718 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911 		JBrowse link
G Spg21 SPG21 abhydrolase domain containing, maspardin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,980,992...66,008,537
Ensembl chr 8:65,980,962...66,008,536 		JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,231,082...106,244,121
Ensembl chr 3:106,231,444...106,244,119 		JBrowse link
G Sppl2a signal peptide peptidase-like 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:114,149,337...114,193,408
Ensembl chr 3:114,151,069...114,193,264 		JBrowse link
G Spred1 sprouty-related, EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718 		JBrowse link
G Sptbn5 spectrin, beta, non-erythrocytic 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,013,783...107,054,878
Ensembl chr 3:107,013,265...107,054,324 		JBrowse link
G Sqor sulfide quinone oxidoreductase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,841,225...109,886,724
Ensembl chr 3:109,841,250...109,960,778 		JBrowse link
G Srp14 signal recognition particle 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,442,184...105,445,875
Ensembl chr 3:105,442,198...105,445,859 		JBrowse link
G Stard5 StAR-related lipid transfer domain containing 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:137,606,151...137,616,017
Ensembl chr 1:137,606,177...137,616,469 		JBrowse link
G Stard9 StAR-related lipid transfer domain containing 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,581,097...107,672,746
Ensembl chr 3:107,581,164...107,673,898 		JBrowse link
G Stoml1 stomatin like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,661,980...58,669,860
Ensembl chr 8:58,661,992...58,669,860 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,548,899...58,568,861
Ensembl chr 8:58,549,736...58,568,860 		JBrowse link
G Strc stereocilin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,335,920...108,355,114
Ensembl chr 3:108,335,747...108,354,134 		JBrowse link
G Tbc1d21 TBC1 domain family, member 21 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,761,562...58,773,711
Ensembl chr 8:58,761,563...58,773,711 		JBrowse link
G Tbc1d2b TBC1 domain family, member 2B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:90,746,220...90,814,867
Ensembl chr 8:90,746,233...90,814,832 		JBrowse link
G Tcf12 transcription factor 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:72,490,447...72,799,265
Ensembl chr 8:72,492,567...72,799,201 		JBrowse link
G Terb2 telomere repeat binding bouquet formation protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,138,343...109,156,700
Ensembl chr 3:109,138,343...109,156,683 		JBrowse link
G Tex9 testis expressed 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:73,168,519...73,213,935
Ensembl chr 8:73,177,810...73,214,261 		JBrowse link
G Tgm5 transglutaminase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,008,087...108,044,013
Ensembl chr 3:108,008,143...108,043,976 		JBrowse link
G Tgm7 transglutaminase 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,051,890...108,068,116
Ensembl chr 3:108,051,890...108,076,239 		JBrowse link
G Thbs1 thrombospondin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440 		JBrowse link
G Thsd4 thrombospondin type 1 domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:60,384,636...60,984,419
Ensembl chr 8:60,386,875...61,024,995 		JBrowse link
G Ticrr TOPBP1-interacting checkpoint and replication regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,597,618...133,639,513
Ensembl chr 1:133,597,716...133,639,523 		JBrowse link
G Tipin timeless interacting protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:64,780,813...64,801,358
Ensembl chr 8:64,780,828...64,801,352 		JBrowse link
G Tle3 TLE family member 3, transcriptional corepressor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:61,857,791...61,903,505
Ensembl chr 8:61,858,200...61,903,493 		JBrowse link
G Tln2 talin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:67,830,920...68,252,240
Ensembl chr 8:67,834,326...68,252,219 		JBrowse link
G Tlnrd1 talin rod domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:137,864,340...137,866,359
Ensembl chr 1:137,864,343...137,866,359 		JBrowse link
G Tm6sf1 transmembrane 6 superfamily member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,799,844...135,828,515
Ensembl chr 1:135,786,381...135,828,443 		JBrowse link
G Tmc3 transmembrane channel-like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:137,552,347...137,597,477
Ensembl chr 1:137,552,455...137,597,633 		JBrowse link
G Tmco5a transmembrane and coiled-coil domains 5A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:103,732,936...103,746,242
Ensembl chr 3:103,732,945...103,746,249 		JBrowse link
G Tmed3 transmembrane p24 trafficking protein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:90,241,516...90,249,429
Ensembl chr 8:90,241,516...90,249,346 		JBrowse link
G Tmem202 transmembrane protein 202 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:59,910,824...59,919,342
Ensembl chr 8:59,910,824...59,916,609 		JBrowse link
G Tmem266 transmembrane protein 266 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,707,122...55,820,692
Ensembl chr 8:55,707,122...55,820,692 		JBrowse link
G Tmem62 transmembrane protein 62 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,921,940...107,961,830
Ensembl chr 3:107,927,307...107,961,795 		JBrowse link
G Tmem87a transmembrane protein 87A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,307,726...107,353,571
Ensembl chr 3:107,307,726...107,353,551 		JBrowse link
G Tmod2 tropomodulin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:76,316,736...76,366,003
Ensembl chr 8:76,325,667...76,365,720 		JBrowse link
G Tmod3 tropomodulin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:76,248,978...76,310,855
Ensembl chr 8:76,248,979...76,310,977 		JBrowse link
G Tnfaip8l3 TNF alpha induced protein 8 like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:54,413,503...54,455,512
Ensembl chr 8:54,414,457...54,500,079 		JBrowse link
G Tp53bp1 tumor protein p53 binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,166,574...108,270,229
Ensembl chr 3:108,169,980...108,269,822 		JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802 		JBrowse link
G Trim69 tripartite motif-containing 69 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,111,468...109,135,255
Ensembl chr 3:109,111,468...109,132,037 		JBrowse link
G Trip4 thyroid hormone receptor interactor 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:66,351,861...66,439,679
Ensembl chr 8:66,353,248...66,439,774 		JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190 		JBrowse link
G Tspan3 tetraspanin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:56,546,067...56,569,815
Ensembl chr 8:56,546,069...56,569,880 		JBrowse link
G Ttbk2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,691,123...107,802,911
Ensembl chr 3:107,697,340...107,803,223 		JBrowse link
G Tubgcp4 tubulin gamma complex component 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,141,081...108,172,207
Ensembl chr 3:108,141,625...108,169,437 		JBrowse link
G Tyro3 TYRO3 protein tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,777,686...106,797,154
Ensembl chr 3:106,777,635...106,797,142 		JBrowse link
G Uaca uveal autoantigen with coiled-coil domains and ankyrin repeats ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:61,259,415...61,347,789
Ensembl chr 8:61,259,477...61,347,789 		JBrowse link
G Ubap1l ubiquitin associated protein 1-like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,877,488...65,897,593
Ensembl chr 8:65,884,729...65,897,593 		JBrowse link
G Ube2q2 ubiquitin conjugating enzyme E2 Q2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,518,402...55,578,342
Ensembl chr 8:55,519,147...55,577,212 		JBrowse link
G Ubl7 ubiquitin-like 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,321,279...58,340,353
Ensembl chr 8:58,320,866...58,340,344 		JBrowse link
G Ubr1 ubiquitin protein ligase E3 component n-recognin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,813,721...107,921,701
Ensembl chr 3:107,811,392...107,922,204 		JBrowse link
G Ulk3 unc-51 like kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,992,396...58,000,220
Ensembl chr 8:57,992,723...57,999,467 		JBrowse link
G Unc13c unc-13 homolog C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:74,247,026...74,697,629
Ensembl chr 8:74,247,899...74,673,223 		JBrowse link
G Unc45a unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,281,930...134,296,661
Ensembl chr 1:134,281,933...134,301,586 		JBrowse link
G Ung uracil-DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2106500 NCBI chr12:42,485,276...42,494,217
Ensembl chr12:42,485,276...42,494,206 		JBrowse link
G Usp3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:67,078,249...67,154,109
Ensembl chr 8:67,079,927...67,154,111 		JBrowse link
G Usp50 ubiquitin specific peptidase 50 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:114,012,104...114,035,468
Ensembl chr 3:114,011,702...114,035,476 		JBrowse link
G Usp8 ubiquitin specific peptidase 8 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:113,962,136...114,009,683
Ensembl chr 3:113,962,164...114,009,666 		JBrowse link
G Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:68,478,366...68,651,893
Ensembl chr 8:68,478,395...68,651,895 		JBrowse link
G Vps18 VPS18 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,279,444...106,290,298
Ensembl chr 3:106,279,425...106,291,964 		JBrowse link
G Vps39 VPS39 subunit of HOPS complex ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,266,846...107,304,884
Ensembl chr 3:107,267,310...107,304,975 		JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229 		JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479 		JBrowse link
G Wdr76 WD repeat domain 76 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,456,784...108,491,528
Ensembl chr 3:108,456,815...108,490,840 		JBrowse link
G Wdr93 WD repeat domain 93 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,687,254...133,737,449
Ensembl chr 1:133,687,248...133,733,630 		JBrowse link
G Whamm WASP homolog associated with actin, golgi membranes and microtubules ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,526,363...135,557,091
Ensembl chr 1:135,526,386...135,554,759 		JBrowse link
G Zfand6 zinc finger AN1-type containing 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:138,581,002...138,652,052
Ensembl chr 1:138,581,002...138,651,939 		JBrowse link
G Zfp106 zinc finger protein 106 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,459,232...107,510,507
Ensembl chr 3:107,462,096...107,510,481 		JBrowse link
G Zfp280d zinc finger protein 280D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:72,992,655...73,080,482
Ensembl chr 8:72,992,650...73,080,480 		JBrowse link
G Zfp592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443 		JBrowse link
G Zfp609 zinc finger protein 609 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:66,214,553...66,349,319
Ensembl chr 8:66,214,555...66,317,977 		JBrowse link
G Zfp710 zinc finger protein 710 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,966,256...134,036,593
Ensembl chr 1:134,024,267...134,036,601 		JBrowse link
G Zfp770 zinc finger protein 770 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:100,963,430...100,971,663
Ensembl chr 3:100,963,427...100,971,684 		JBrowse link
G Zfyve19 zinc finger FYVE-type containing 19 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,195,779...106,203,969
Ensembl chr 3:106,195,899...106,203,969 		JBrowse link
G Zscan2 zinc finger and SCAN domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,833,701...134,848,957
Ensembl chr 1:134,833,871...134,848,952 		JBrowse link
G Zscan29-ps1 zinc finger and SCAN domain containing 29, pseudogene 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,136,468...108,140,431 JBrowse link
G Zwilch zwilch kinetochore protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:64,638,401...64,670,911
Ensembl chr 8:64,637,672...64,675,916 		JBrowse link
brain small vessel disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Porencephaly 2 ClinVar PMID:25741868 NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain susceptibility ISO ClinVar Annotator: match by term: COL4A2-related condition | ClinVar Annotator: match by term: COL4A2-related disorder | ClinVar Annotator: match by term: Porencephaly 2 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22209246 PMID:22209247 More... NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839 		JBrowse link
Cardiofacioneurodevelopmental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc32 coiled-coil domain containing 32 ISO ClinVar Annotator: match by term: Cardiofacioneurodevelopmental syndrome OMIM
ClinVar		 PMID:25741868 PMID:32307552 PMID:35451546 NCBI chr 3:105,998,429...106,010,985
Ensembl chr 3:105,998,430...106,010,975 		JBrowse link
Christianson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,734,610...134,864,449
Ensembl chr  X:134,854,736...134,864,449 		JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304 		JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,906,817...134,932,321
Ensembl chr  X:134,906,784...134,930,983 		JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:16015284 PMID:16611748 PMID:16813600 PMID:17993579 More... NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928 		JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958 		JBrowse link
G Hivep2 HIVEP zinc finger 2 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:25741868 NCBI chr 1:8,358,205...8,555,993
Ensembl chr 1:8,359,289...8,555,993 		JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,935,426...134,949,607
Ensembl chr  X:134,935,426...134,949,607 		JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,619,227...134,647,525
Ensembl chr  X:134,619,227...134,685,841 		JBrowse link
G Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,305,237...135,314,806
Ensembl chr  X:135,305,325...135,314,743 		JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:16813600 PMID:18414213 PMID:19241098 PMID:20479760 More... NCBI chr  X:33,962,440...33,992,203
Ensembl chr  X:33,963,657...33,992,115 		JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO
ISS		 ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type
OMIM:300243
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:15319456 PMID:15358621 PMID:16019685 PMID:16199547 More... NCBI chr  X:134,430,677...134,486,747
Ensembl chr  X:134,420,756...134,485,375 		JBrowse link
G Vgll1 vestigial-like family member 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,979,657...134,996,007 JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,123,662...136,129,627
Ensembl chr  X:136,124,026...136,134,746 		JBrowse link
chromosome 15q26-qter deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:120,445,800...120,768,204
Ensembl chr 1:120,445,749...120,768,202 		JBrowse link
G Aldh1a3 aldehyde dehydrogenase 1 family, member A3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:119,982,272...120,017,416
Ensembl chr 1:119,982,277...120,017,436 		JBrowse link
G Asb7 ankyrin repeat and SOCS box-containing 7 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:120,222,835...120,267,411
Ensembl chr 1:120,222,745...120,267,282 		JBrowse link
G Cers3 ceramide synthase 3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:120,316,930...120,422,926
Ensembl chr 1:120,318,212...120,422,902 		JBrowse link
G Chsy1 chondroitin sulfate synthase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:119,689,626...119,750,711
Ensembl chr 1:119,686,350...119,750,601 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Lins1 lines homolog 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:120,267,586...120,295,013
Ensembl chr 1:120,267,693...120,293,607 		JBrowse link
G Lrrc28 leucine rich repeat containing 28 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:121,116,833...121,245,805
Ensembl chr 1:121,127,733...121,245,784 		JBrowse link
G Lrrk1 leucine-rich repeat kinase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:119,844,360...119,972,885
Ensembl chr 1:119,845,146...119,979,734 		JBrowse link
G Lysmd4 LysM domain containing 4 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:120,839,180...120,845,148
Ensembl chr 1:120,839,282...120,845,135 		JBrowse link
G Mef2a myocyte enhancer factor 2a ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:120,847,874...120,982,488
Ensembl chr 1:120,850,080...120,981,948 		JBrowse link
G Pgpep1l pyroglutamyl-peptidase I-like ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:121,835,243...121,868,368
Ensembl chr 1:121,840,697...121,869,407 		JBrowse link
G Synm synemin ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:121,333,712...121,363,652
Ensembl chr 1:121,333,720...121,363,652 		JBrowse link
G Ttc23 tetratricopeptide repeat domain 23 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:121,245,996...121,329,500
Ensembl chr 1:121,248,084...121,329,494 		JBrowse link
chromosome 1q41-q42 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53bp2 tumor protein p53 binding protein, 2 ISS OMIM:612530 MouseDO NCBI chr13:94,088,769...94,145,436
Ensembl chr13:94,088,709...94,145,432 		JBrowse link
CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp73 tumor protein p73 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 47, and lissencephaly OMIM
ClinVar		 PMID:25741868 PMID:34077761 NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128 		JBrowse link
CK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: CK syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH THIN BODY HABITUS AND CORTICAL MALFORMATION OMIM
ClinVar		 PMID:18414213 PMID:19377476 PMID:21129721 PMID:25741868 PMID:28492532 NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142 		JBrowse link
Classical Lissencephalies and Subcortical Band Heterotopias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO DNA:missense mutation:exon:p.D262G (c.785A>G) (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.A71S (211G>T) (human)
DNA:missense mutations: :multiple		 CTD
RGD		 PMID:27292316 PMID:11071144 PMID:12838518 RGD:11568595, RGD:12904735, RGD:12904728 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476 		JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Classic lissencephaly ClinVar NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585 		JBrowse link
G Mnt MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr10:59,699,208...59,714,848
Ensembl chr10:59,699,585...59,714,835 		JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia ClinVar PMID:25741868 NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808 		JBrowse link
cleft palate, cardiac defects, and intellectual disabillity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Meis2 Meis homeobox 2 ISO ClinVar Annotator: match by term: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | ClinVar Annotator: match by term: MEIS2-related disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:24678003 PMID:25712757 PMID:25741868 More... NCBI chr 3:102,742,904...102,944,833
Ensembl chr 3:102,742,900...102,949,696 		JBrowse link
Cohen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd46 ankyrin repeat domain 46 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,647,202...67,668,180
Ensembl chr 7:67,647,204...67,668,132 		JBrowse link
G Atp6v1c1 ATPase H+ transporting V1 subunit C1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,834,464...69,872,278
Ensembl chr 7:69,834,463...69,872,278 		JBrowse link
G Azin1 antizyme inhibitor 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,654,773...69,681,578
Ensembl chr 7:69,654,663...69,681,578 		JBrowse link
G Baalc BAALC binder of MAP3K1 and KLF4 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,918,998...69,992,289
Ensembl chr 7:69,918,998...69,992,288 		JBrowse link
G Cox6c cytochrome c oxidase subunit 6C ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,129,265...67,142,001
Ensembl chr 7:67,111,024...67,141,963 		JBrowse link
G Cthrc1 collagen triple helix repeat containing 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,122,474...70,132,756
Ensembl chr 7:70,122,474...70,132,756 		JBrowse link
G Dcaf13 DDB1 and CUL4 associated factor 13 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,160,983...70,196,142
Ensembl chr 7:70,160,941...70,196,142 		JBrowse link
G Dcstamp dendrocyte expressed seven transmembrane protein ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,807,455...70,822,067
Ensembl chr 7:70,807,581...70,822,078 		JBrowse link
G Dpys dihydropyrimidinase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,822,648...70,929,255
Ensembl chr 7:70,835,789...70,929,231 		JBrowse link
G Fbxo43 F-box protein 43 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,333,161...67,346,751
Ensembl chr 7:67,333,162...67,346,751 		JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,055,012...70,086,781
Ensembl chr 7:70,055,068...70,086,776 		JBrowse link
G Grhl2 grainyhead-like transcription factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:68,400,287...68,530,269
Ensembl chr 7:68,400,477...68,530,258 		JBrowse link
G Kcns2 potassium voltage-gated channel, modifier subfamily S, member 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chr 7:66,022,352...66,028,422
Ensembl chr 7:66,022,352...66,028,422 		JBrowse link
G Klf10 KLF transcription factor 10 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,467,658...69,473,726
Ensembl chr 7:69,465,619...69,473,994 		JBrowse link
G Lrp12 LDL receptor related protein 12 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,941,068...71,012,409
Ensembl chr 7:70,941,068...71,012,441 		JBrowse link
G Mir875 microRNA 875 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chr 7:66,861,955...66,862,027
Ensembl chr 7:66,861,955...66,862,027 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
G Ncald neurocalcin delta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:68,532,671...68,964,740
Ensembl chr 7:68,534,421...68,964,496 		JBrowse link
G Nipal2 NIPA-like domain containing 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:65,774,477...65,884,807
Ensembl chr 7:65,774,477...65,884,807 		JBrowse link
G Odf1 outer dense fiber of sperm tails 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,377,427...69,389,662
Ensembl chr 7:69,380,116...69,389,664 		JBrowse link
G Osr2 odd-skipped related transciption factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chr 7:66,487,841...66,495,003
Ensembl chr 7:66,487,839...66,495,224 		JBrowse link
G Pabpc1 poly(A) binding protein, cytoplasmic 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,777,438...67,789,731
Ensembl chr 7:67,777,381...67,789,744 		JBrowse link
G Polr2k RNA polymerase II, I and III subunit K ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,347,118...67,359,466
Ensembl chr 7:67,356,113...67,357,668 		JBrowse link
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:65,705,348...65,733,143
Ensembl chr 7:65,705,368...65,733,141 		JBrowse link
G Rgs22 regulator of G-protein signaling 22 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,188,531...67,308,805
Ensembl chr 7:67,188,519...67,308,875 		JBrowse link
G Rims2 regulating synaptic membrane exocytosis 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,248,104...70,759,134
Ensembl chr 7:70,243,872...70,757,491 		JBrowse link
G Rnf19a ring finger protein 19A, RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,425,833...67,465,214
Ensembl chr 7:67,425,837...67,465,222 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633 		JBrowse link
G Slc25a32 solute carrier family 25 member 32 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,142,958...70,160,726
Ensembl chr 7:70,142,964...70,160,770 		JBrowse link
G Snx31 sorting nexin 31 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,676,514...67,776,925
Ensembl chr 7:67,676,524...67,732,086 		JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: VPS13B-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368 		JBrowse link
G Stk3 serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chr 7:66,053,209...66,323,292
Ensembl chr 7:66,052,345...66,323,233 		JBrowse link
G Ubr5 ubiquitin protein ligase E3 component n-recognin 5 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,115,216...69,224,843
Ensembl chr 7:69,116,761...69,224,903 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO
ISS		 ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: Pepper syndrome | ClinVar Annotator: match by term: VPS13B-related condition
OMIM:216550
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 More... NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429 		JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,941,353...67,963,651
Ensembl chr 7:67,940,017...67,963,668 		JBrowse link
G Zfp706 zinc finger protein 706 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:68,167,496...68,174,121
Ensembl chr 7:68,166,323...68,174,148 		JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205 		JBrowse link
Congenital Muscular Dystrophy with Central Nervous System Involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409 		JBrowse link
G Myh1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chr10:51,885,913...51,909,699
Ensembl chr10:51,885,913...51,946,295 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy A14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19901254 PMID:23768512 More... NCBI chr 8:108,737,429...108,740,437
Ensembl chr 8:108,693,060...108,767,286 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy A7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankmy2 ankyrin repeat and MYND domain containing 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 6:52,888,959...52,930,343
Ensembl chr 6:52,888,963...52,930,394 		JBrowse link
G Bzw2 basic leucine zipper and W2 domains 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 6:52,828,069...52,888,599
Ensembl chr 6:52,827,661...52,888,628 		JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 OMIM
ClinVar		 PMID:2328832 PMID:2522420 PMID:7604843 PMID:9492098 PMID:9536098 More... NCBI chr 6:53,120,264...53,397,030
Ensembl chr 6:53,121,438...53,397,028 		JBrowse link
G Lrrc72 leucine rich repeat containing 72 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 6:52,935,387...52,995,552
Ensembl chr 6:52,935,387...52,995,540 		JBrowse link
G Sostdc1 sclerostin domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 6:53,051,336...53,055,510
Ensembl chr 6:53,051,354...53,055,579 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 More... NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 More... NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar PMID:23877401 PMID:25558065 NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065 		JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED ClinVar PMID:25741868 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 More... NCBI chr 1:77,479,641..